Canonical Allele Identifier: CA392377201

Gene: HDC

Linked Data

• dbSNP Id: rs2045410180
• MyVariant Identifiers: chr15:g.50534720G>A (hg19) ; chr15:g.50242523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242523G>A , CM000677.2:g.50242523G>A	GRCh38
NC_000015.9:g.50534720G>A , CM000677.1:g.50534720G>A	GRCh37
NC_000015.8:g.48322012G>A	NCBI36
NG_027487.1:g.28443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1726C>T MANE Select	ENSP00000267845.3:p.Gln576Ter
ENST00000267845.7:c.1726C>T	ENSP00000267845.3:p.Gln576Ter
ENST00000543581.5:c.1627C>T	ENSP00000440252.1:p.Gln543Ter
ENST00000559816.1:n.1470C>T
NM_001306146.1:c.1627C>T	NP_001293075.1:p.Gln543Ter
NM_002112.3:c.1726C>T	NP_002103.2:p.Gln576Ter
XM_011521479.1:c.1489C>T	XP_011519781.1:p.Gln497Ter
XM_011521480.1:c.1294C>T	XP_011519782.1:p.Gln432Ter
XM_017022094.1:c.1831C>T	XP_016877583.1:p.Gln611Ter
XM_017022095.1:c.1732C>T	XP_016877584.1:p.Gln578Ter
XM_017022096.1:c.1603C>T	XP_016877585.1:p.Gln535Ter
XM_017022097.1:c.1594C>T	XP_016877586.1:p.Gln532Ter
XM_017022098.1:c.1399C>T	XP_016877587.1:p.Gln467Ter
NM_002112.4:c.1726C>T MANE Select	NP_002103.2:p.Gln576Ter
NM_001306146.2:c.1627C>T	NP_001293075.1:p.Gln543Ter